Canonical Allele Identifier: CA2614858483

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71437914-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437916del , CM000673.2:g.71437916del	GRCh38
NC_000011.9:g.71148962del , CM000673.1:g.71148962del	GRCh37
NC_000011.8:g.70826610del	NCBI36
NG_012655.2:g.15517del , LRG_340:g.15517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.860del	ENSP00000435707.3:p.Asn287ThrfsTer6
ENST00000526780.6:c.860del	ENSP00000435668.2:p.Asn287ThrfsTer6
ENST00000527316.6:c.686del	ENSP00000435047.2:p.Asn229ThrfsTer6
ENST00000682708.1:c.911del	ENSP00000506866.1:p.Asn304ThrfsTer6
ENST00000682880.1:c.860del	ENSP00000507520.1:p.Asn287ThrfsTer6
ENST00000683287.1:c.896del	ENSP00000507607.1:p.Asn299ThrfsTer6
ENST00000683714.1:c.860del	ENSP00000508207.1:p.Asn287ThrfsTer6
ENST00000684396.1:n.900del
ENST00000685320.1:c.275del	ENSP00000509319.1:p.Asn92ThrfsTer6
ENST00000690257.1:c.764del	ENSP00000510750.1:p.Asn255ThrfsTer6
ENST00000355527.8:c.860del MANE Select	ENSP00000347717.4:p.Asn287ThrfsTer6
ENST00000355527.7:c.860del	ENSP00000347717.3:p.Asn287ThrfsTer6
ENST00000407721.6:c.860del	ENSP00000384739.2:p.Asn287ThrfsTer6
ENST00000525137.1:c.227del	ENSP00000435956.1:p.Asn76ThrfsTer6
ENST00000527316.5:c.764del	ENSP00000435047.1:p.Asn255ThrfsTer?
ENST00000533800.5:c.110del	ENSP00000435011.1:p.Asn37ThrfsTer6
ENST00000534795.5:c.216del
NM_001163817.1:c.860del	NP_001157289.1:p.Asn287ThrfsTer6
NM_001360.2:c.860del , LRG_340t1:c.860del	NP_001351.2:p.Asn287ThrfsTer6
XM_011544777.1:c.860del	XP_011543079.1:p.Asn287ThrfsTer6
XM_011544777.2:c.860del	XP_011543079.1:p.Asn287ThrfsTer6
NM_001163817.2:c.860del	NP_001157289.1:p.Asn287ThrfsTer6
NM_001360.3:c.860del MANE Select	NP_001351.2:p.Asn287ThrfsTer6